Rare Diseases Symptoms Automatic Extraction

Genetic testing by cancer site: skin.

[cowden syndrome]

Many hereditary cancer predisposition syndromes are associated with cutaneous findings, both benign and malignant. Dermatological examination and histopathology, when combined with a thorough personal and family medical history, play an important role in the diagnosis of cancer predisposition syndromes. Skin findings are an important diagnostic tool for a variety of cancer syndromes, including Cowden syndrome, Birt-Hogg-Dubé, hereditary leiomyomatosis renal cell carcinoma, and others. This article focuses on the phenotype, medical management, and genetic testing for 4 hereditary cancer syndromes that include cutaneous findings: hereditary melanoma, basal cell nevus syndrome, neurofibromatosis type 1, and neurofibromatosis type 2.

Diseases presenting "renal cell carcinoma" symptom

  • cowden syndrome
  • dedifferentiated liposarcoma
  • esophageal adenocarcinoma
  • esophageal squamous cell carcinoma
  • liposarcoma
  • pleomorphic liposarcoma
  • severe combined immunodeficiency
  • systemic capillary leak syndrome
  • von hippel-lindau disease

This symptom has already been validated